X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: AMCBX2
MYCOBACTERIAL DISEASE, MENDELIAN SUSCEPTIBILITY TO, X-LINKED RECESSIVE 2
ATYPICAL MYCOBACTERIAL INFECTION, DISSEMINATED, X-LINKED 2
ATYPICAL MYCOBACTERIAL INFECTION, FAMILIAL DISSEMINATED, X-LINKED 2
XRMSMD2
MYCOBACTERIAL DISEASE, SUSCEPTIBILITY TO, X-LINKED 2
X-linked MSMD due to CYBB deficiency
Number of Symptoms 5
OrphanetNr: 319623
OMIM Id: 300645
ICD-10: D84.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: X-linked mendelian susceptibility to mycobacterial diseases
 -Rare genetic disease
 -Rare immune disease

Symptom Information: Sort by abundance 

1
 (HPO:0005428) Severe recurrent varicella 2 / 7739
2
 (HPO:0011274) Recurrent mycobacterial infections 7 / 7739
3
 (OMIM) Varicella zoster infection 1 / 7739
4
 (OMIM) Recurrent mycobacterial disease (BCG and M. tuberculosis) 1 / 7739
5
 (HPO:0001419) X-linked recessive inheritance 189 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Bustamante et al. (2007) studied a large French kindred in which 4 male maternal relatives had recurrent mycobacterial disease, suggesting X-linked recessive inheritance. Three patients had recurrent disease caused by BCG, and 1 had recurrent tuberculosis. The infections ...
Molecular genetics OMIM In the kindred they reported with X-linked MSMD, Bustamante et al. (2011) identified a thr178-to-pro (T178P; 300481.0023) mutation in the CYBB gene. In the kindred reported by Bustamante et al. (2007), Bustamante et al. (2011) identified a glu231-to-pro ...